Property Summary

NCBI Gene PubMed Count 22
PubMed Score 423.47
PubTator Score 15.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ependymoma 2514 1.83374927256117E-14
juvenile dermatomyositis 1189 1.63009173242329E-11
ovarian cancer 8492 4.91855354599273E-9
pilocytic astrocytoma 3086 5.48376482997402E-8
osteosarcoma 7933 3.09300748658274E-6
medulloblastoma, large-cell 6234 5.70087400184321E-6
atypical teratoid / rhabdoid tumor 4369 1.65252017095672E-5
acute quadriplegic myopathy 1157 7.90291212292499E-5
pediatric high grade glioma 2712 8.60364466263575E-5
group 4 medulloblastoma 1875 2.70814363960643E-4
dermatomyositis 967 9.21864200786136E-4
subependymal giant cell astrocytoma 2287 0.00191440964109195
diabetes mellitus 1663 0.00341754908713753
glioblastoma 5572 0.00366567224525342
Polycystic Ovary Syndrome 335 0.00460633543173632
lung cancer 4473 0.00996677684253911
astrocytoma 1493 0.0130992333380115
psoriasis 6685 0.0161369529609587
Gaucher disease type 1 171 0.0169852104730511
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.036766380988149
primary pancreatic ductal adenocarcinoma 1271 0.0397050659373659
adrenocortical carcinoma 1427 0.0423670231162161
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.043382126329935
Disease Target Count Z-score Confidence
Mucopolysaccharidosis 24 4.936 2.5
Disease Target Count Z-score Confidence
Glomerulonephritis 36 4.14 2.1
Nephrotic Syndrome 48 3.604 1.8
Disease Target Count
Mucopolysaccharidosis, MPS-III-D 1
Disease Target Count
Mucopolysaccharidosis 3D 1

Expression

Synonym

Accession P15586 B4DYH8 Q53F05
Symbols G6S

Gene

GNS

PANTHER Protein Class (1)

  Ortholog (11)

Gene RIF (6)

PMID Text
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of glucosamine (N-acetyl)-6-sulfatase (GNS) expression by HIV-1 Vpr in Vpr transduced macrophages
20232353 12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID.
19650410 We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X).
17998446 Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene.
16990043 A large intragenic deletion of 8723 bp encompassing exons 2 and 3 has been identified, the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes. Q272X has also been found.
12624138 The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase.

AA Sequence

MRLLPLAPGRLRRGSPRHLPSCSPALLLLVLGGCLGVFGVAAGTRRPNVVLLLTDDQDEVLGGMTPLKKT      1 - 70
KALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMC     71 - 140
GYQTFFAGKYLNEYGAPDAGGLEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLAN    141 - 210
VSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTNKHWLIRQAKTPMTNS    211 - 280
SIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKV    281 - 350
PLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEG    351 - 420
RNVTDPTCPSLSPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITN    421 - 490
IAKTIDPELLGKMNYRLMMLQSCSGPTCRTPGVFDPGYRFDPRLMFSNRGSVRTRRFSKHLL            491 - 552
//

Text Mined References (28)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20232353 2010 Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
19650410 2009 A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
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